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Aliases for STX1B Gene

Aliases for STX1B Gene

  • Syntaxin 1B 2 3 5
  • Syntaxin-1B1 3 4
  • Syntaxin-1B2 3 4
  • STX1B1 3 4
  • STX1B2 3 4
  • Syntaxin 1B1 2
  • Syntaxin 1B2 2
  • GEFSP9 3

External Ids for STX1B Gene

Previous HGNC Symbols for STX1B Gene

  • STX1B1
  • STX1B2

Previous GeneCards Identifiers for STX1B Gene

  • GC16M030912
  • GC16M028563

Summaries for STX1B Gene

Entrez Gene Summary for STX1B Gene

  • The protein encoded by this gene belongs to a family of proteins thought to play a role in the exocytosis of synaptic vesicles. Vesicle exocytosis releases vesicular contents and is important to various cellular functions. For instance, the secretion of transmitters from neurons plays an important role in synaptic transmission. After exocytosis, the membrane and proteins from the vesicle are retrieved from the plasma membrane through the process of endocytosis. Mutations in this gene have been identified as one cause of fever-associated epilepsy syndromes. A possible link between this gene and Parkinson's disease has also been suggested. [provided by RefSeq, Jan 2015]

GeneCards Summary for STX1B Gene

STX1B (Syntaxin 1B) is a Protein Coding gene. Diseases associated with STX1B include generalized epilepsy with febrile seizures plus, type 9 and generalized epilepsy with febrile seizures plus. Among its related pathways are Nicotine Pathway (Dopaminergic Neuron), Pharmacodynamics and Synaptic vesicle cycle. GO annotations related to this gene include protein kinase binding and SNARE binding. An important paralog of this gene is STX4.

UniProtKB/Swiss-Prot for STX1B Gene

  • Potentially involved in docking of synaptic vesicles at presynaptic active zones. May mediate Ca(2+)-regulation of exocytosis acrosomal reaction in sperm (By similarity).

Gene Wiki entry for STX1B Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for STX1B Gene

Genomics for STX1B Gene

Regulatory Elements for STX1B Gene

Enhancers for STX1B Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around STX1B on UCSC Golden Path with GeneCards custom track

Promoters for STX1B Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around STX1B on UCSC Golden Path with GeneCards custom track

Genomic Location for STX1B Gene

Chromosome:
16
Start:
30,989,256 bp from pter
End:
31,010,638 bp from pter
Size:
21,383 bases
Orientation:
Minus strand

Genomic View for STX1B Gene

Genes around STX1B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
STX1B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for STX1B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for STX1B Gene

Proteins for STX1B Gene

  • Protein details for STX1B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P61266-STX1B_HUMAN
    Recommended name:
    Syntaxin-1B
    Protein Accession:
    P61266
    Secondary Accessions:
    • Q15531
    • Q2VPS2

    Protein attributes for STX1B Gene

    Size:
    288 amino acids
    Molecular mass:
    33245 Da
    Quaternary structure:
    • Interacts with OTOF. Interacts with SYT6 and SYT8; the interaction is Ca(2+)-dependent (By similarity).

    Alternative splice isoforms for STX1B Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for STX1B Gene

Proteomics data for STX1B Gene at MOPED

Post-translational modifications for STX1B Gene

Other Protein References for STX1B Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for STX1B Gene

Domains & Families for STX1B Gene

Gene Families for STX1B Gene

Protein Domains for STX1B Gene

Suggested Antigen Peptide Sequences for STX1B Gene

Graphical View of Domain Structure for InterPro Entry

P61266

UniProtKB/Swiss-Prot:

STX1B_HUMAN :
  • Contains 1 t-SNARE coiled-coil homology domain.
  • Belongs to the syntaxin family.
Domain:
  • Contains 1 t-SNARE coiled-coil homology domain.
Family:
  • Belongs to the syntaxin family.
genes like me logo Genes that share domains with STX1B: view

Function for STX1B Gene

Molecular function for STX1B Gene

GENATLAS Biochemistry:
syntaxin 1B,brain,forming a synaptic core complex with synaptosome associated proteins,and synaptobrevin,binding to N-type Ca2+ channels,involved in vesicular transport and in Ca2 dependent synaptic transmission,soluble N ethylmaleimide-sensitive factor-attachment protein receptor,SNARE protein
UniProtKB/Swiss-Prot Function:
Potentially involved in docking of synaptic vesicles at presynaptic active zones. May mediate Ca(2+)-regulation of exocytosis acrosomal reaction in sperm (By similarity).

Gene Ontology (GO) - Molecular Function for STX1B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000149 SNARE binding IBA --
genes like me logo Genes that share ontologies with STX1B: view
genes like me logo Genes that share phenotypes with STX1B: view

Human Phenotype Ontology for STX1B Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for STX1B Gene

MGI Knock Outs for STX1B:

Animal Model Products

  • Taconic Biosciences Mouse Models for STX1B

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for STX1B Gene

Localization for STX1B Gene

Subcellular locations from UniProtKB/Swiss-Prot for STX1B Gene

Isoform 1: Membrane; Single-pass type IV membrane protein.
Isoform 2: Nucleus. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cytoplasm, cytoskeleton, spindle. Note=Colocalizes with Lamin A/C and NuMA in interphasic nuclei, and with NuMA and gamma-tubulin in the pericentrosomal region of the mitotic spindle in dividing cells.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for STX1B Gene COMPARTMENTS Subcellular localization image for STX1B gene
Compartment Confidence
cytosol 5
nucleus 4
plasma membrane 4
cytoskeleton 3

Gene Ontology (GO) - Cellular Components for STX1B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IEA --
GO:0005819 spindle IEA --
GO:0008021 synaptic vesicle IBA --
genes like me logo Genes that share ontologies with STX1B: view

Pathways & Interactions for STX1B Gene

genes like me logo Genes that share pathways with STX1B: view

Pathways by source for STX1B Gene

Gene Ontology (GO) - Biological Process for STX1B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0015031 protein transport IEA --
GO:0017157 regulation of exocytosis IEA --
GO:0061669 spontaneous neurotransmitter secretion IEA --
genes like me logo Genes that share ontologies with STX1B: view

No data available for SIGNOR curated interactions for STX1B Gene

Drugs & Compounds for STX1B Gene

No Compound Related Data Available

Transcripts for STX1B Gene

Unigene Clusters for STX1B Gene

Syntaxin 1B:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for STX1B Gene

No ASD Table

Relevant External Links for STX1B Gene

GeneLoc Exon Structure for
STX1B
ECgene alternative splicing isoforms for
STX1B

Expression for STX1B Gene

mRNA expression in normal human tissues for STX1B Gene

mRNA differential expression in normal tissues according to GTEx for STX1B Gene

This gene is overexpressed in Brain - Cerebellum (x7.0), Brain - Cortex (x6.8), Brain - Cerebellar Hemisphere (x6.4), Brain - Frontal Cortex (BA9) (x5.8), and Brain - Anterior cingulate cortex (BA24) (x4.5).

Protein differential expression in normal tissues from HIPED for STX1B Gene

This gene is overexpressed in Frontal cortex (34.6), Brain (19.6), and Fetal Brain (7.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for STX1B Gene



SOURCE GeneReport for Unigene cluster for STX1B Gene Hs.542230

genes like me logo Genes that share expression patterns with STX1B: view

Protein tissue co-expression partners for STX1B Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt for STX1B Gene

Orthologs for STX1B Gene

This gene was present in the common ancestor of animals.

Orthologs for STX1B Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia STX1B 35
  • 93.63 (n)
  • 99.65 (a)
STX1B 36
  • 100 (a)
OneToOne
dog
(Canis familiaris)
Mammalia STX1B 35
  • 95.56 (n)
  • 100 (a)
STX1B 36
  • 100 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Stx1b 35
  • 92.13 (n)
  • 100 (a)
Stx1b 16
Stx1b 36
  • 100 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia STX1B 35
  • 99.88 (n)
  • 100 (a)
STX1B 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Stx1b 35
  • 90.97 (n)
  • 100 (a)
oppossum
(Monodelphis domestica)
Mammalia STX1B 36
  • 98 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 66 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia STX1B 36
  • 98 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia stx1b 35
  • 84.03 (n)
  • 98.61 (a)
zebrafish
(Danio rerio)
Actinopterygii stx1b 35
  • 82.18 (n)
  • 96.87 (a)
syntaxin1b 35
stx1b 36
  • 97 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.12062 35
fruit fly
(Drosophila melanogaster)
Insecta Syx1A 36
  • 67 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea unc-64 36
  • 57 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 59 (a)
OneToMany
Species with no ortholog for STX1B:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for STX1B Gene

ENSEMBL:
Gene Tree for STX1B (if available)
TreeFam:
Gene Tree for STX1B (if available)

Paralogs for STX1B Gene

Paralogs for STX1B Gene

(11) SIMAP similar genes for STX1B Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with STX1B: view

Variants for STX1B Gene

Sequence variations from dbSNP and Humsavar for STX1B Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type
VAR_072675 Generalized epilepsy with febrile seizures plus 9 (GEFSP9)
VAR_072676 Generalized epilepsy with febrile seizures plus 9 (GEFSP9)
rs8062719 -- 30,991,343(+) TGAGC(A/G)TGCAG utr-variant-3-prime
rs12934371 -- 30,991,313(+) GAGAC(A/T)TGGAG utr-variant-3-prime
rs12934413 -- 30,991,409(+) TGGCC(A/C)CACCA utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for STX1B Gene

Variant ID Type Subtype PubMed ID
nsv905729 CNV Loss 21882294
nsv905733 CNV Loss 21882294
dgv35n68 CNV Loss 17160897
dgv2670n71 CNV Loss 21882294
dgv2671n71 CNV Loss 21882294
nsv457483 CNV Loss 19166990
nsv833193 CNV Gain+Loss 17160897
nsv905739 CNV Loss 21882294
esv270787 CNV Insertion 20981092

Variation tolerance for STX1B Gene

Residual Variation Intolerance Score: 30.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.21; 4.71% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for STX1B Gene

HapMap Linkage Disequilibrium report
STX1B
Human Gene Mutation Database (HGMD)
STX1B

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for STX1B Gene

Disorders for STX1B Gene

MalaCards: The human disease database

(4) MalaCards diseases for STX1B Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, and GeneCards

Disorder Aliases PubMed IDs
generalized epilepsy with febrile seizures plus, type 9
  • generalized epilepsy with febrile seizures plus 9
generalized epilepsy with febrile seizures plus
  • gefs+
stx1b-related generalized epilepsy with febrile seizures plus
  • generalized epilepsy with febrile seizures plus, type 9
febrile seizures
  • seizures febrile
- elite association - COSMIC cancer census association via MalaCards
Search STX1B in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

STX1B_HUMAN
  • Generalized epilepsy with febrile seizures plus 9 (GEFSP9) [MIM:616172]: An autosomal dominant neurologic disorder characterized by febrile and/or afebrile seizures manifesting in early childhood. Seizure are variable and include generalized tonic-clonic, atonic, myoclonic, complex partial, and absence types. Most patients have remission of seizures later in childhood with no residual neurologic deficits. Rarely, patients may show mild developmental delay or mild intellectual disabilities. {ECO:0000269 PubMed:25362483}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for STX1B

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
STX1B
genes like me logo Genes that share disorders with STX1B: view

No data available for Genatlas for STX1B Gene

Publications for STX1B Gene

  1. Mutations in STX1B, encoding a presynaptic protein, cause fever- associated epilepsy syndromes. (PMID: 25362483) Schubert J. … Lerche H. (Nat. Genet. 2014) 3 4 67
  2. The RIT2 and STX1B polymorphisms are associated with Parkinson's disease. (PMID: 25534083) Wang J.Y. … Zhu J.H. (Parkinsonism Relat. Disord. 2015) 3
  3. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  4. VAPB/ALS8 interacts with FFAT-like proteins including the p97 cofactor FAF1 and the ASNA1 ATPase. (PMID: 24885147) Baron Y. … Alexandru G. (BMC Biol. 2014) 3
  5. Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease. (PMID: 25064009) Nalls M.A. … Singleton A.B. (Nat. Genet. 2014) 3

Products for STX1B Gene

Sources for STX1B Gene

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